| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
Likely pathogenic; Pathogenic |
rs74315309, rs121908116 |
RCV001729334 RCV000055985 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
Likely pathogenic; Pathogenic |
rs2103042605, rs74315309, rs121908116, rs879255629, rs2526890961, rs954823206 |
RCV001807985 RCV004798715 RCV000004408 RCV003765486 RCV003794981 RCV000549383 |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
Likely pathogenic |
rs879255629 |
RCV000239549 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
Likely pathogenic; Pathogenic |
rs74315309, rs2526927321, rs879255629, rs879255553, rs766500689, rs2526890961, rs954823206, rs1657345576, rs200017138 |
RCV000004407 RCV003238157 RCV003765486 RCV000239464 RCV003338495 RCV003794981 RCV000549383 RCV001291625 RCV001291626 |
| Tooth agenesis |
Likely pathogenic |
rs1030214435 |
RCV001269383 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Ectodermal dysplasia |
Benign; Likely benign |
rs114632254 |
RCV005400721 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
Likely benign; Uncertain significance |
rs61740486, rs61740488, rs1309549108, rs988277282, rs111987152 |
RCV000276600 RCV000369022 RCV001098734 RCV001102495 RCV001098850 |
| EDARADD-related disorder |
Benign |
rs139996586 |
RCV003953175 |
| Familial cancer of breast |
Conflicting classifications of pathogenicity |
rs189781826 |
RCV005891667 |
| Gastric cancer |
Benign |
rs634626 |
RCV005925222 |
| Hypohidrotic ectodermal dysplasia |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs483352767, rs79233817, rs966365, rs184596437, rs114632254, rs604070, rs60808129, rs375789023, rs760609411, rs189781826, rs886046194, rs7513402, rs878897423, rs6428955, rs878900513, rs759461234, rs142266831, rs886046191, rs570062425, rs61736989, rs3916983, rs886046197, rs774501424, rs759188384, rs886046186, rs886046187, rs886046188, rs775159272, rs188977509, rs193138062, rs886046193, rs201710490, rs886046196, rs886046198, rs886046185, rs74942492, rs886046190, rs745456566, rs886046192, rs202115969, rs114783553, rs139996586, rs568663942, rs201197563, rs573814452, rs1242190032, rs201986008, rs61740489, rs750918090, rs572366811, rs61511776, rs1018635371, rs956560100, rs780044781, rs61737025, rs559506851, rs940030231, rs1053380939, rs184215335, rs149429886, rs1476912628 View all (46 more) |
RCV001102402 RCV001100438 RCV001100439 RCV001100444 RCV001102398 RCV001102399 RCV001100440 RCV001102401 RCV001097001 RCV001097004 RCV001102496 RCV001097089 RCV001098844 RCV001098845 RCV001098847 RCV001100441 RCV001097002 RCV001098735 RCV001100548 RCV001097090 RCV001097091 RCV001097092 RCV001098848 RCV001100661 RCV001100664 RCV001102397 RCV001096998 RCV001096999 RCV001097000 RCV001098736 RCV001100553 RCV001100554 RCV001102501 RCV001097087 RCV001100663 RCV001102396 RCV001102403 RCV001097003 RCV001098737 RCV001100550 RCV001097088 RCV001098849 RCV001102400 RCV001096997 RCV001098738 RCV001098739 RCV001100549 RCV001100551 RCV001100552 RCV001100555 RCV001102494 RCV001102497 RCV001102498 RCV001102499 RCV001102500 RCV001097093 RCV001097094 RCV001098843 RCV001098846 RCV001100662 RCV001100442 RCV001100443 |
| Hypohidrotic Ectodermal Dysplasia, Recessive |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs79233817, rs966365, rs184596437, rs604070, rs60808129, rs375789023, rs760609411, rs189781826, rs183153044, rs886046194, rs7513402, rs878897423, rs6428955, rs878900513, rs759461234, rs142266831, rs886046189, rs886046191, rs570062425, rs61736989, rs3916983, rs886046197, rs774501424, rs759188384, rs886046200, rs886046186, rs886046187, rs886046188, rs775159272, rs188977509, rs193138062, rs886046193, rs201710490, rs886046196, rs886046198, rs886046185, rs74942492, rs886046190, rs745456566, rs886046192, rs372417387, rs202115969, rs114783553, rs886046199 View all (29 more) |
RCV000353307 RCV000262285 RCV000293938 RCV000288299 RCV000319731 RCV000345575 RCV000304003 RCV000356260 RCV000330735 RCV000340693 RCV000300675 RCV000370341 RCV000268785 RCV000307413 RCV000385891 RCV000361021 RCV000400334 RCV000263791 RCV000270882 RCV000348580 RCV000389958 RCV000313375 RCV000364479 RCV000320698 RCV000266882 RCV000371747 RCV000389636 RCV000291908 RCV000339894 RCV000398160 RCV000334007 RCV000384811 RCV000283309 RCV000379160 RCV000335136 RCV000377749 RCV000332712 RCV000398173 RCV000298052 RCV000381618 RCV000327972 RCV000286993 RCV000397258 RCV000272688 RCV000324071 |
| Lung cancer |
Benign; Conflicting classifications of pathogenicity |
rs634626, rs189781826 |
RCV005925224 RCV005891668 |
| Malignant tumor of esophagus |
Conflicting classifications of pathogenicity |
rs114783553 |
RCV005891669 |
| Thymoma |
Conflicting classifications of pathogenicity |
rs114783553 |
RCV005891670 |
| Uterine carcinosarcoma |
Benign |
rs634626 |
RCV005925223 |
|